Pituitary stalk interruption syndrome: a case report

Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder characterized by an interrupted or absent pituitary stalk, ectopic posterior pituitary, and anterior pituitary hypoplasia, resulting in varying degrees of hypopituitarism. An 18-year-old white American male with a history of panhypopituitarism, adrenal insufficiency, and Asperger’s syndrome presented with seizures. Examination revealed short stature and absent secondary sexual characteristics. Endocrine evaluation demonstrated multiple pituitary hormone deficiencies. Magnetic resonance imaging showed a hypoplastic anterior pituitary gland, ectopic posterior pituitary, and absent pituitary stalk, confirming the diagnosis of PSIS. Hormone replacement therapy with hydrocortisone, levothyroxine, growth hormone, and testosterone enanthate was initiated. PSIS should be considered in patients with growth failure, delayed puberty, and multiple pituitary hormone deficiencies. Early recognition and timely hormone replacement are critical to optimize growth, pubertal development, and long-term outcomes.